Names & Taxonomy

Uniprot ID:
Q13635
Entry Name:
PTC1_HUMAN
Status:
reviewed
Protein Names:
Protein patched homolog 1 (PTC) (PTC1)
Gene Names:
PTCH1 PTCH
Gene Names Primary:
PTCH1
Organism:
Homo sapiens (Human)

Structure

Length:
1447
Sequence:
MASAGNAAEPQDRGGGGSGCIGAPGRPAGGGRRRRTGGLRRAAAPDRDYLHRPSYCDAAFALEQISKGKATGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVVGLLIFGAFAVGLKAANLETNVEELWVEVGGRVSRELNYTRQKIGEEAMFNPQLMIQTPKEEGANVLTTEALLQHLDSALQASRVHVYMYNRQWKLEHLCYKSGELITETGYMDQIIEYLYPCLIITPLDCFWEGAKLQSGTAYLLGKPPLRWTNFDPLEFLEELKKINYQVDSWEEMLNKAEVGHGYMDRPCLNPADPDCPATAPNKNSTKPLDMALVLNGGCHGLSRKYMHWQEELIVGGTVKNSTGKLVSAHALQTMFQLMTPKQMYEHFKGYEYVSHINWNEDKAAAILEAWQRTYVEVVHQSVAQNSTQKVLSFTTTTLDDILKSFSDVSVIRVASGYLLMLAYACLTMLRWDCSKSQGAVGLAGVLLVALSVAAGLGLCSLIGISFNAATTQVLPFLALGVGVDDVFLLAHAFSETGQNKRIPFEDRTGECLKRTGASVALTSISNVTAFFMAALIPIPALRAFSLQAAVVVVFNFAMVLLIFPAILSMDLYRREDRRLDIFCCFTSPCVSRVIQVEPQAYTDTHDNTRYSPPPPYSSHSFAHETQITMQSTVQLRTEYDPHTHVYYTTAEPRSEISVQPVTVTQDTLSCQSPESTSSTRDLLSQFSDSSLHCLEPPCTKWTLSSFAEKHYAPFLLKPKAKVVVIFLFLGLLGVSLYGTTRVRDGLDLTDIVPRETREYDFIAAQFKYFSFYNMYIVTQKADYPNIQHLLYDLHRSFSNVKYVMLEENKQLPKMWLHYFRDWLQGLQDAFDSDWETGKIMPNNYKNGSDDGVLAYKLLVQTGSRDKPIDISQLTKQRLVDADGIINPSAFYIYLTAWVSNDPVAYAASQANIRPHRPEWVHDKADYMPETRLRIPAAEPIEYAQFPFYLNGLRDTSDFVEAIEKVRTICSNYTSLGLSSYPNGYPFLFWEQYIGLRHWLLLFISVVLACTFLVCAVFLLNPWTAGIIVMVLALMTVELFGMMGLIGIKLSAVPVVILIASVGIGVEFTVHVALAFLTAIGDKNRRAVLALEHMFAPVLDGAVSTLLGVLMLAGSEFDFIVRYFFAVLAILTILGVLNGLVLLPVLLSFFGPYPEVSPANGLNRLPTPSPEPPPSVVRFAMPPGHTHSGSDSSDSEYSSQTTVSGLSEELRHYEAQQGAGGPAHQVIVEATENPVFAHSTVVHPESRHHPPSNPRQQPHLDSGSLPPGRQGQQPRRDPPREGLWPPPYRPRRDAFEISTEGHSGPSNRARWGPRGARSHNPRNPASTAMGSSVPGYCQPITTVTASASVTVAVHPPPVPGPGRNPRGGLCPGYPETDHGLFEDPHVPFHVRCERRDSKVEVIELQDVECEERPRGSSSN
Proteomes:
UP000005640

Subcellular location

Subcellular Location:
Membrane; Multi-pass membrane protein.

Function

Function:
Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.
Gene Ontology Go:
axonal growth cone
caveola
ciliary membrane
dendritic growth cone
endocytic vesicle membrane
integral component of membrane
intracellular membrane-bounded organelle
midbody
perinuclear region of cytoplasm
plasma membrane
postsynaptic density
primary cilium
cholesterol binding
cyclin binding
hedgehog family protein binding
hedgehog receptor activity
heparin binding
smoothened binding
brain development
branching involved in ureteric bud morphogenesis
cell differentiation involved in kidney development
cell fate determination
cell proliferation involved in metanephros development
cellular response to cholesterol
dorsal/ventral pattern formation
embryonic limb morphogenesis
embryonic organ development
epidermal cell fate specification
glucose homeostasis
heart morphogenesis
hindlimb morphogenesis
in utero embryonic development
keratinocyte proliferation
limb morphogenesis
mammary gland duct morphogenesis
mammary gland epithelial cell differentiation
negative regulation of cell division
negative regulation of epithelial cell proliferation
negative regulation of multicellular organism growth
negative regulation of osteoblast differentiation
negative regulation of sequence-specific DNA binding transcription factor activity
negative regulation of smoothened signaling pathway
negative regulation of transcription from RNA polymerase II promoter
neural plate axis specification
neural tube closure
neural tube patterning
organ morphogenesis
pharyngeal system development
positive regulation of cholesterol efflux
positive regulation of epidermal cell differentiation
positive regulation of transcription, DNA-templated
protein processing
protein targeting to plasma membrane
regulation of mitotic cell cycle
regulation of protein localization
regulation of smoothened signaling pathway
renal system development
response to chlorate
response to drug
response to estradiol
response to mechanical stimulus
response to retinoic acid
smoothened signaling pathway
smoothened signaling pathway involved in dorsal/ventral neural tube patterning
somite development
spinal cord motor neuron differentiation
Gene Ontology Biological Process:
brain development
branching involved in ureteric bud morphogenesis
cell differentiation involved in kidney development
cell fate determination
cell proliferation involved in metanephros development
cellular response to cholesterol
dorsal/ventral pattern formation
embryonic limb morphogenesis
embryonic organ development
epidermal cell fate specification
glucose homeostasis
heart morphogenesis
hindlimb morphogenesis
in utero embryonic development
keratinocyte proliferation
limb morphogenesis
mammary gland duct morphogenesis
mammary gland epithelial cell differentiation
negative regulation of cell division
negative regulation of epithelial cell proliferation
negative regulation of multicellular organism growth
negative regulation of osteoblast differentiation
negative regulation of sequence-specific DNA binding transcription factor activity
negative regulation of smoothened signaling pathway
negative regulation of transcription from RNA polymerase II promoter
neural plate axis specification
neural tube closure
neural tube patterning
organ morphogenesis
pharyngeal system development
positive regulation of cholesterol efflux
positive regulation of epidermal cell differentiation
positive regulation of transcription, DNA-templated
protein processing
protein targeting to plasma membrane
regulation of mitotic cell cycle
regulation of protein localization
regulation of smoothened signaling pathway
renal system development
response to chlorate
response to drug
response to estradiol
response to mechanical stimulus
response to retinoic acid
smoothened signaling pathway
smoothened signaling pathway involved in dorsal/ventral neural tube patterning
somite development
spinal cord motor neuron differentiation
Gene Ontology Molecular Function:
cholesterol binding
cyclin binding
hedgehog family protein binding
hedgehog receptor activity
heparin binding
smoothened binding
Gene Ontology Cellular Component:
axonal growth cone
caveola
ciliary membrane
dendritic growth cone
endocytic vesicle membrane
integral component of membrane
intracellular membrane-bounded organelle
midbody
perinuclear region of cytoplasm
plasma membrane
postsynaptic density
primary cilium
Keywords:
Alternative splicing
Complete proteome
Disease mutation
Glycoprotein
Holoprosencephaly
Isopeptide bond
Membrane
Phosphoprotein
Polymorphism
Receptor
Reference proteome
Transmembrane
Transmembrane helix
Tumor suppressor
Ubl conjugation
Interacts With:
P46937

Publication

PubMed ID:
8658145 8647801 15164053 15780749 15489334 17310997 15769472 21537345 8840969 8981943 9341860 10200051 9620294 10874314 11231326 11286632 11941477 15459969 17096318 17001668